Variant report

Variant	rs74114930
Chromosome Location	chr10:5581137-5581138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5580577..5583353-chr10:5588383..5590307,3	K562	blood:
2	chr10:5579819..5582323-chr10:5586182..5587701,2	K562	blood:
3	chr10:5580109..5581869-chr10:5591078..5593322,2	K562	blood:
4	chr10:5572286..5574919-chr10:5580356..5582232,2	K562	blood:
5	chr10:5578593..5581319-chr10:5585776..5587701,2	K562	blood:
6	chr10:5580025..5582244-chr10:5589635..5591706,2	K562	blood:
7	chr10:5579554..5581874-chr10:5597912..5600159,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs58597212	1.00[AMR][1000 genomes]
rs58695646	1.00[AMR][1000 genomes]
rs7082604	1.00[AMR][1000 genomes]
rs7087503	1.00[AMR][1000 genomes]
rs74114936	1.00[AMR][1000 genomes]
rs74114943	1.00[AMR][1000 genomes]
rs74114949	1.00[AMR][1000 genomes]
rs74114953	1.00[AMR][1000 genomes]
rs74114956	1.00[AMR][1000 genomes]
rs74114959	1.00[AMR][1000 genomes]
rs74114987	1.00[AMR][1000 genomes]
rs74114988	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv932104	chr10:5203626-5641023	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv549886	chr10:5205437-5632060	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv1054865	chr10:5225305-5638119	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv831774	chr10:5463556-5657421	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv894798	chr10:5503610-5670275	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1051283	chr10:5505474-5619941	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1049523	chr10:5542109-5619941	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv523491	chr10:5542109-5720067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv1052002	chr10:5544571-5619941	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv1038479	chr10:5545773-5619941	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	esv2757364	chr10:5557024-5720512	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	nsv894800	chr10:5572893-5621628	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5567800-5587000	Weak transcription	Right Atrium	heart
2	chr10:5572800-5583000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:5573600-5581800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr10:5576600-5581400	Enhancers	HepG2	liver
5	chr10:5576800-5586400	Weak transcription	Esophagus	oesophagus
6	chr10:5577600-5581200	Weak transcription	Primary B cells from cord blood	blood
7	chr10:5577800-5583200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:5579200-5583000	Enhancers	Placenta	Placenta
9	chr10:5579600-5582000	Enhancers	HMEC	breast
10	chr10:5579800-5581600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:5579800-5582000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:5579800-5582200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:5579800-5585400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:5580000-5581400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr10:5580000-5581400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr10:5580200-5581400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:5580400-5581200	Enhancers	Lung	lung
18	chr10:5580400-5581400	Enhancers	Stomach Mucosa	stomach
19	chr10:5580400-5581800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr10:5580400-5583200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr10:5580600-5581200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:5580600-5581200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:5580600-5581200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:5580600-5581200	Enhancers	Ovary	ovary
25	chr10:5580600-5581200	Enhancers	Stomach Smooth Muscle	stomach
26	chr10:5580600-5581200	Enhancers	HSMM	muscle
27	chr10:5580600-5581200	Enhancers	K562	blood
28	chr10:5580600-5581400	Enhancers	Fetal Muscle Trunk	muscle
29	chr10:5580600-5581600	Enhancers	Fetal Muscle Leg	muscle
30	chr10:5580600-5581600	Enhancers	NH-A	brain
31	chr10:5580600-5583800	Enhancers	Fetal Intestine Large	intestine
32	chr10:5580600-5583800	Enhancers	Fetal Intestine Small	intestine
33	chr10:5580800-5581200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr10:5580800-5581200	Enhancers	Gastric	stomach
35	chr10:5580800-5581200	Enhancers	NHDF-Ad	bronchial
36	chr10:5580800-5581400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr10:5580800-5581600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr10:5580800-5581600	Enhancers	HSMMtube	muscle
39	chr10:5581000-5581200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr10:5581000-5581200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr10:5581000-5581600	Enhancers	Fetal Thymus	thymus
42	chr10:5581000-5581800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr10:5581000-5581800	Enhancers	NHEK	skin
44	chr10:5581000-5582600	Weak transcription	Hela-S3	cervix

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